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rs587776976

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587776976(C;T)
Make rs587776976(T;T)
ReferenceGRCh38 38.1/142
Chromosome22
Position31792765
GeneDEPDC5
is asnp
is mentioned by
dbSNPrs587776976
dbSNP (classic)rs587776976
ClinGenrs587776976
ebirs587776976
HLIrs587776976
Exacrs587776976
Gnomadrs587776976
Varsomers587776976
LitVarrs587776976
Maprs587776976
PheGenIrs587776976
Biobankrs587776976
1000 genomesrs587776976
hgdprs587776976
ensemblrs587776976
geneviewrs587776976
scholarrs587776976
googlers587776976
pharmgkbrs587776976
gwascentralrs587776976
openSNPrs587776976
23andMers587776976
SNPshotrs587776976
SNPdbers587776976
MSV3drs587776976
GWAS Ctlgrs587776976
Max Magnitude0
ClinVar
Risk rs587776976(T;T)
Alt rs587776976(T;T)
Reference Rs587776976(C;C)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene DEPDC5
CLNDBN Epilepsy, familial focal, with variable foci 1
Reversed 0
HGVS NC_000022.10:g.32188751C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000043584.4,